Joana Catarina Damásio Correia dos Santos
AuthID: R-002-PWH
21
TITLE: Anti-NMDAr Encephalitis and COVID-19 in a Patient With Systemic pANCA-Vasculitis and Recurrent Varicella Zoster Infection
AUTHORS: Moura, J; Duarte, S; Sardoeira, A; Neves Maia, J; Damasio, J; Taipa, R; Carneiro, P; Neves, E; Campar, A; Santos, E;
PUBLISHED: 2022, SOURCE: NEUROHOSPITALIST, VOLUME: 12, ISSUE: 2
AUTHORS: Moura, J; Duarte, S; Sardoeira, A; Neves Maia, J; Damasio, J; Taipa, R; Carneiro, P; Neves, E; Campar, A; Santos, E;
PUBLISHED: 2022, SOURCE: NEUROHOSPITALIST, VOLUME: 12, ISSUE: 2
22
TITLE: Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia Full Text
AUTHORS: Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, José ; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita;
PUBLISHED: 2022, SOURCE: CELLS, VOLUME: 11, ISSUE: 6
AUTHORS: Santos, Mariana; Damasio, Joana; Carmona, Susana; Neto, Joao Luis; Dehghani, Nadia; Guedes, Leonor Correia; Barbot, Clara; Barros, José ; Bras, Jose; Sequeiros, Jorge; Guerreiro, Rita;
PUBLISHED: 2022, SOURCE: CELLS, VOLUME: 11, ISSUE: 6
23
TITLE: Augmin-dependent microtubule self-organization drives kinetochore fiber maturation in mammals
AUTHORS: Almeida, Ana C.; Soares de Oliveira, Joana; Drpic, Danica; Cheeseman, Liam P.; Damas, Joana; Lewin, Harris A.; Larkin, Denis M.; Aguiar, Paulo ; Pereira, Antonio J.; Maiato, Helder ;
PUBLISHED: 2022, SOURCE: CELL REPORTS, VOLUME: 39, ISSUE: 1
AUTHORS: Almeida, Ana C.; Soares de Oliveira, Joana; Drpic, Danica; Cheeseman, Liam P.; Damas, Joana; Lewin, Harris A.; Larkin, Denis M.; Aguiar, Paulo ; Pereira, Antonio J.; Maiato, Helder ;
PUBLISHED: 2022, SOURCE: CELL REPORTS, VOLUME: 39, ISSUE: 1
24
TITLE: Genetic analysis of Portuguese patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)
AUTHORS: Lopes, Ana; Malaquias, Maria Joao; Braz, Luis ; Damasio, Joana; Garcez, Daniela; Marques, Bravo; Caetano, Andre; Sousa, Ana Paula; Aires, Ana; Velon, Ana Graca; Sousa, Ana Luisa; Alves, Cristina; Costa, Cristina; Coelho, Cristina Rosado; Brandao, Eva; Nadais, Goreti; Guimaraes, Joana; Mendes, Michel; Vila Cha, Nuno; Abreu, Pedro; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Ana; Malaquias, Maria Joao; Braz, Luis ; Damasio, Joana; Garcez, Daniela; Marques, Bravo; Caetano, Andre; Sousa, Ana Paula; Aires, Ana; Velon, Ana Graca; Sousa, Ana Luisa; Alves, Cristina; Costa, Cristina; Coelho, Cristina Rosado; Brandao, Eva; Nadais, Goreti; Guimaraes, Joana; Mendes, Michel; Vila Cha, Nuno; Abreu, Pedro; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: 
WOS
WOS25
TITLE: Genetic analysis in a large cohort of patients with hereditary spastic paraplegia: diagnostic challenges
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS26
TITLE: Clinical and genetic characterization of seven Portuguese patients with KMT2B variants
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Lopes, Alexandra M. ; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana F.; Lopes, Fatima; Bastos Ferreira, Rita; Jorge, Andre; Januario, Cristina; Costa, Henrique M.; Bras, Ana C.; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao P.; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS27
TITLE: Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15
AUTHORS: Moura, Joao; Sardoeira, Ana; Oliveira, Jorge; Mendes, Alexandre; Barros, José ; Sequeiros, Jorge; Barbot, Clara; Damasio, Joana;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 50, ISSUE: 3
AUTHORS: Moura, Joao; Sardoeira, Ana; Oliveira, Jorge; Mendes, Alexandre; Barros, José ; Sequeiros, Jorge; Barbot, Clara; Damasio, Joana;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 50, ISSUE: 3
28
TITLE: EXPANDING THE MUTATIONAL SPECTRUM OF KMT2B GENE: SIX NOVEL VARIANTS AND TWO CASES WITH ATYPICAL PRESENTATIONS Full Text
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS29
TITLE: Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22-related Ritscher-Schinzel syndromes
AUTHORS: Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Hojte, Anne F.; Fenger, Christina D.; Moller, Rikke S.; Bayat, Allan;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 11
AUTHORS: Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Hojte, Anne F.; Fenger, Christina D.; Moller, Rikke S.; Bayat, Allan;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 11
30
TITLE: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2021, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2021, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
